N-acetyl glutamate synthetase deficiency

Preferred Label : N-acetyl glutamate synthetase deficiency;

MeSH synonym : hyperammonemia due to N-Acetylglutamate synthetase deficiency; NAGS deficiency; N-Acetylglutamate synthetase deficiency; N-Acetylglutamate synthase deficiency;

Détails

Origin ID

C536109;

UMLS CUI

C0268543;

Automatic exact mappings (from CISMeF team)
- N-acetylglutamate synthase deficiency [Artificial nutrition thesaurus concept]
CISMeF manual mappings
- hyperammonemia, type iii [SNOMED Notion]
Currated CISMeF NLP mapping
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetylglutamate synthase deficiency [ICD-11 More detail]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- amino-acid n-acetyltransferase [MeSH Descriptor]
- urea cycle disorders, inborn [MeSH Descriptor]
Record concept(s)
- N-acetyl glutamate synthetase deficiency [MeSH concept]
See also (suggested by CISMeF)
- NAGS protein, human [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Hyperammonaemia due to N-acetylglutamate synthetase deficiency [ICD-11 More detail]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperammonaemia due to N-acetylglutamate synthetase deficiency [ICD-11 More detail]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- N-acetylglutamate synthase deficiency [OMIM Phenotype]
- N-acetylglutamate synthase deficiency [ICD-11 More detail]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients